A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626191



Internal ID15503038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13200753..13202426hg38UCSC Ensembl
Outerchr16:13197797..13203491hg38UCSC Ensembl
Innerchr16:13294610..13296283hg19UCSC Ensembl
Outerchr16:13291654..13297348hg19UCSC Ensembl
Innerchr16:13202111..13203784hg18UCSC Ensembl
Outerchr16:13199155..13204849hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg385695
hg195695
hg185695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511565
Supporting Variants
Samples1
Known GenesSHISA9
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626191
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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